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Research

Publications: Prof Panagiotis Deloukas

Hodgson S, Williamson A, Bigossi M, Stow D, Jacobs BM, Samuel M, Gafton J, Zöllner J et al. ( 2024 ) . Genetic basis of early onset and progression of type 2 diabetes in South Asians . Nature Medicine1 - 9 .
Hamilton F, Schurz H, Yates TA, Gilchrist JJ, Möller M, Naranbhai V, Ghazal P, Timpson NJ et al. ( 2024 ) . Altered IL-6 signalling and risk of tuberculosis: a multi-ancestry mendelian randomisation study . The Lancet Microbe
Jacobs BM, Stow D, Hodgson S, Zöllner J, Samuel M, Kanoni S, Bidi S, Walter K et al. ( 2024 ) . Genetic architecture of routinely acquired blood tests in a British South Asian cohort . Nature Communications vol. 15 , ( 1 )
Shore CJ, Villicaña S, Moustafa JSE-S, Roberts AL, Gunn DA, Bataille V, Deloukas P, Spector TD et al. ( 2024 ) . Genetic effects on the skin methylome in healthy older twins . American Journal of Human Genetics vol. 111 , ( 9 ) 1932 - 1952 .
Gomez EA, De Matteis R, Udomjarumanee P, Team GAHR, Akhtar S, Anwar M, Arciero E, Asgar O et al. ( 2024 ) . An LGR6 frameshift variant abrogates receptor expression on select leukocyte subsets and is associated with viral infections . Blood vol. 144 , ( 4 ) 420 - 434 .
Papadopoulou A, Harding D, Slabaugh G, Marouli E, Deloukas P ( 2024 ) . Prediction of atrial fibrillation and stroke using machine learning models in UK Biobank . Heliyon vol. 10 , ( 7 )
Babajide O, Kjaergaard AD, Deng W, Kuś A, Sterenborg RBTM, Åsvold BO, Burgess S, Teumer A et al. ( 2024 ) . The role of thyroid function in borderline personality disorder and schizophrenia: a Mendelian Randomisation study . Borderline Personality Disorder and Emotion Dysregulation vol. 11 , ( 1 )
Slabaugh G, Beltran L, Rizvi H, Deloukas P, Marouli E ( 2023 ) . Applications of machine and deep learning to thyroid cytology and histopathology: a review . Frontiers in Oncology vol. 13 ,
Papadopoulou A, Åsvold BO, Burgess S, Kuś A, Medici M, Sterenborg R, Teumer A, Deloukas P et al. ( 2023 ) . Height, Autoimmune Thyroid Disease, and Thyroid Cancer: A Mendelian Randomization Study . Thyroid vol. 33 , ( 12 ) 1476 - 1482 .
Quaye LNK, Dalzell CE, Deloukas P, Smith AJP ( 2023 ) . The Genetics of Coronary Artery Disease: A Vascular Perspective . Cells vol. 12 , ( 18 )
Giardoglou P, Deloukas P, Dedoussis G, Beis D ( 2023 ) . Cfdp1 Is Essential for Cardiac Development and Function . Cells vol. 12 , ( 15 )
Kurniansyah N, Goodman MO, Khan AT, Wang J, Feofanova E, Bis JC, Wiggins KL, Huffman JE et al. ( 2023 ) . Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups . Nature Communications vol. 14 , ( 1 )
Graham SE, Clarke SL, Wu K-HH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I et al. ( 2023 ) . Author Correction: The power of genetic diversity in genome-wide association studies of lipids . Nature vol. 618 , ( 7965 ) e19 - e20 .
Zöllner J, Finer S, Linton KJ, van Heel DA, Williamson C, Dixon PH ( 2023 ) . Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom . Scientific Reports vol. 13 , ( 1 )
Burley K, Fitzgibbon L, van Heel D, Team GHR, Akhtar S, Anwar M, Arciero E, Asgar O et al. ( 2023 ) . PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry . Research and Practice in Thrombosis and Haemostasis vol. 7 , ( 4 )
Visvikis-Siest S, Stathopoulou MG, Sunder-Plassmann R, Alizadeh BZ, Barouki R, Chatzaki E, Dagher G, Dedoussis G et al. ( 2023 ) . The 10th Santorini conference: Systems medicine, personalised health and therapy. “The odyssey from hope to practice: Patient first. Keep Ithaca always in your mind”, Santorini, Greece, 23–26 May 2022 . Frontiers in Genetics vol. 14 ,
Kalafati IP, Dimitriou M, Revenas K, Kokkinos A, Deloukas P, Dedoussis GV ( 2023 ) . TM6SF2-rs58542926 Genetic Variant Modifies the Protective Effect of a “Prudent” Dietary Pattern on Serum Triglyceride Levels . Nutrients vol. 15 , ( 5 )
Kafyra M, Kalafati IP, Dimitriou M, Grigoriou E, Kokkinos A, Rallidis L, Kolovou G, Trovas G et al. ( 2023 ) . Robust Bioinformatics Approaches Result in the First Polygenic Risk Score for BMI in Greek Adults . Journal of Personalized Medicine vol. 13 , ( 2 )
Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF et al. ( 2022 ) . Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis . Genome Biology vol. 23 , ( 1 )
Aragam KG, Jiang T, Goel A, Kanoni S, Wolford BN, Atri DS, Weeks EM, Wang M et al. ( 2022 ) . Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants . Nature Genetics vol. 54 , ( 12 ) 1803 - 1815 .
Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU et al. ( 2022 ) . A saturated map of common genetic variants associated with human height . Nature vol. 610 , ( 7933 ) 704 - 712 .
CC R, JRJ I, S O-G, WM C, Cruz DS, H Y, AJ C, DJM C et al. ( 2022 ) . Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes .
Nguyen H, Solomonson M, Palotie A, Davis L, Lee S, Priest J, Sankaran VG, van Heel D et al. ( 2022 ) . A first update on mapping the human genetic architecture of COVID-19 . Nature vol. 608 , ( 7921 ) e1 - e10 .
Wielscher M, Mandaviya PR, Kuehnel B, Joehanes R, Mustafa R, Robinson O, Zhang Y, Bodinier B et al. ( 2022 ) . DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases . Nature Communications vol. 13 , ( 1 )
Dam V, Onland-Moret NC, Burgess S, Chirlaque M-D, Peters SAE, Schuit E, Tikk K, Weiderpass E et al. ( 2022 ) . Genetically Determined Reproductive Aging and Coronary Heart Disease: A Bidirectional 2-sample Mendelian Randomization . The Journal of Clinical Endocrinology & Metabolism vol. 107 , ( 7 ) e2952 - e2961 .
Kjaergaard AD, Teumer A, Marouli E, Deloukas P, Kuś A, Sterenborg R, Åsvold BO, Medici M et al. ( 2022 ) . Thyroid function, pernicious anemia and erythropoiesis: a two-sample Mendelian randomization study . Human Molecular Genetics vol. 31 , ( 15 ) 2548 - 2559 .
Amanatidou AI, Kaliora AC, Amerikanou C, Stojanoski S, Milosevic N, Vezou C, Beribaka M, Banerjee R et al. ( 2022 ) . Association of Dietary Patterns with MRI Markers of Hepatic Inflammation and Fibrosis in the MAST4HEALTH Study . International Journal of Environmental Research and Public Health vol. 19 , ( 2 )
Hawe JS, Wilson R, Schmid KT, Zhou L, Lakshmanan LN, Lehne BC, Kühnel B, Scott WR et al. ( 2022 ) . Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function . Nature Genetics vol. 54 , ( 1 ) 18 - 29 .
Graham SE, Clarke SL, Wu K-HH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I et al. ( 2021 ) . The power of genetic diversity in genome-wide association studies of lipids . Nature vol. 600 , ( 7890 ) 675 - 679 .
Bourgeois S, Carr DF, Musumba CO, Penrose A, Esume C, Morris AP, Jorgensen AL, Zhang JE et al. ( 2021 ) . Genome-Wide association between EYA1 and Aspirin-induced peptic ulceration . EBioMedicine vol. 74 ,
Marouli E, Yusuf L, Kjaergaard AD, Omar R, Kuś A, Babajide O, Sterenborg R, Åsvold BO et al. ( 2021 ) . Thyroid Function and the Risk of Alzheimer's Disease: A Mendelian Randomization Study . Thyroid vol. 31 , ( 12 ) 1794 - 1799 .
Xie T, Gorenjak V, Stathopoulou MG, Dadé S, Marouli E, Masson C, Murray H, Lamont J et al. ( 2021 ) . Epigenome-wide association study detects a novel loci associated with central obesity in healthy subjects . BMC Medical Genomics vol. 14 , ( 1 )
Papadopoulou A, Musa H, Sivaganesan M, McCoy D, Deloukas P, Marouli E ( 2021 ) . COVID-19 susceptibility variants associate with blood clots, thrombophlebitis and circulatory diseases . PLoS ONE vol. 16 , ( 9 September )
Boer CG, Hatzikotoulas K, Southam L, Stefánsdóttir L, Zhang Y, de Almeida RC, Wu TT, Zheng J et al. ( 2021 ) . Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations . Cell vol. 184 , ( 18 ) 4784 - 4818.e17 .
Ellervik C, Mora S, Kuś A, Åsvold B, Marouli E, Deloukas P, Sterenborg RBTM, Teumer A et al. ( 2021 ) . Effects of Thyroid Function on Hemostasis, Coagulation, and Fibrinolysis: A Mendelian Randomization Study . Thyroid vol. 31 , ( 9 ) 1305 - 1315 .
Robertson CC, Inshaw JRJ, Onengut-Gumuscu S, Chen W-M, Santa Cruz DF, Yang H, Cutler AJ, Crouch DJM et al. ( 2021 ) . Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes . Nature Genetics vol. 53 , ( 7 ) 962 - 971 .
Kuś A, Kjaergaard AD, Marouli E, Del Greco MF, Sterenborg RBTM, Chaker L, Peeters RP, Bednarczuk T et al. ( 2021 ) . Thyroid Function and Mood Disorders: A Mendelian Randomization Study . Thyroid vol. 31 , ( 8 ) 1171 - 1181 .
Kanoni S, Kumar S, Amerikanou C, Kurth MJ, Stathopoulou MG, Bourgeois S, Masson C, Kannt A et al. ( 2021 ) . Nutrigenetic Interactions Might Modulate the Antioxidant and Anti-Inflammatory Status in Mastiha-Supplemented Patients With NAFLD . Frontiers in Immunology vol. 12 ,
Amerikanou C, Kanoni S, Kaliora AC, Barone A, Bjelan M, D'Auria G, Gioxari A, Gosalbes MJ et al. ( 2021 ) . Effect of Mastiha supplementation on NAFLD: The MAST4HEALTH Randomised, Controlled Trial . Molecular Nutrition & Food Research vol. 65 , ( 10 )
Giardoglou P, Bournele D, Park M, Kanoni S, Dedoussis GV, Steinberg SF, Deloukas P, Beis D ( 2021 ) . A zebrafish forward genetic screen identifies an indispensable threonine residue in the kinase domain of PRKD2 . Biology Open vol. 10 , ( 3 )
Lagou V, Mägi R, Hottenga J-J, Grallert H, Perry JRB, Bouatia-Naji N, Marullo L, Rybin D et al. ( 2021 ) . Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability . Nature Communications vol. 12 , ( 1 )
Kjaergaard AD, Marouli E, Papadopoulou A, Deloukas P, Kuś A, Sterenborg R, Teumer A, Burgess S et al. ( 2021 ) . Thyroid function, sex hormones and sexual function: a Mendelian randomization study . European Journal of Epidemiology vol. 36 , ( 3 ) 335 - 344 .
Ahluwalia TS, Prins BP, Abdollahi M, Armstrong NJ, Aslibekyan S, Bain L, Jefferis B, Baumert J et al. ( 2021 ) . Genome-wide association study of circulating interleukin 6 levels identifies novel loci . Human Molecular Genetics . vol. 30 , 393 - 409 .
Lagou V, Mägi R, Hottenga J-J, Grallert H, Perry JRB, Bouatia-Naji N, Marullo L, Rybin D et al. ( 2021 ) . Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability . Nature Communications vol. 12 , ( 1 )
Cai L, Wheeler E, Kerrison ND, Luan J, Deloukas P, Franks PW, Amiano P, Ardanaz E et al. ( 2020 ) . Genome-wide association analysis of type 2 diabetes in the EPIC-InterAct study . Scientific Data vol. 7 , ( 1 )
Cuellar-Partida G, Tung JY, Eriksson N, Albrecht E, Aliev F, Andreassen OA, Barroso I, Beckmann JS et al. ( 2020 ) . Genome-wide association study identifies 48 common genetic variants associated with handedness . Nature Human Behaviour vol. 5 , ( 1 ) 59 - 70 .
Kuś A, Marouli E, Del Greco M. F, Chaker L, Bednarczuk T, Peeters RP, Teumer A, Medici M et al. ( 2020 ) . Variation in Normal Range Thyroid Function Affects Serum Cholesterol Levels, Blood Pressure, and Type 2 Diabetes Risk: A Mendelian Randomization Study . Thyroid vol. 31 , ( 5 ) 721 - 731 .
Van Zuydam NR, Ladenvall C, Voight BF, Strawbridge RJ, Fernandez-Tajes J, Rayner NW, Robertson NR, Mahajan A et al. ( 2020 ) . Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus . Circulation: Genomic and Precision Medicine vol. 13 , ( 6 ) 640 - 648 .
Ai-Ghalayini KW, Salama MA, Al Mahdi HB, Al-Harthi S, Alhejily WA, Alasnag MA, Tasbhji NO, Al-Quwaie DAH et al. ( 2020 ) . Identification of Genetic Variants Associated With Myocardial Infarction in Saudi Arabia . The Heart Surgery Forum vol. 23 , ( 4 ) e517 - e523 .
Mahmoodi BK, Tragante V, Kleber ME, Holmes MV, Schmidt AF, McCubrey RO, Howe LJ, Direk K et al. ( 2020 ) . Association of Factor V Leiden With Subsequent Atherothrombotic Events . Circulation vol. 142 , ( 6 ) 546 - 555 .
Villar D, Frost S, Deloukas P, Tinker A ( 2020 ) . The contribution of non-coding regulatory elements to cardiovascular disease . Open Biology vol. 10 , ( 7 ) 200088 - 200088 .
Marouli E, Kus A, Del Greco M F, Chaker L, Peeters R, Teumer A, Deloukas P, Medici M ( 2020 ) . Thyroid Function Affects the Risk of Stroke via Atrial Fibrillation: A Mendelian Randomization Study . The Journal of Clinical Endocrinology & Metabolism vol. 105 , ( 8 )
Fabre MA, McKerrell T, Zwiebel M, Vijayabaskar MS, Park N, Wells PM, Rad R, Deloukas P et al. ( 2020 ) . Concordance for clonal hematopoiesis is limited in elderly twins . Blood vol. 135 , ( 4 ) 269 - 273 .
Schunkert H, Erdmann J, Samani NJ, Deloukas P, Zeng L ( 2020 ) . Genetics of educational attainment and coronary risk in Mendelian randomization studies . European Heart Journal vol. 41 , ( 7 ) 894 - 895 .
Huang T, Wang T, Zheng Y, Ellervik C, Li X, Gao M, Fang Z, Chai JF et al. ( 2019 ) . Association of Birth Weight With Type 2 Diabetes and Glycemic Traits: A Mendelian Randomization Study . JAMA network open vol. 2 , ( 9 ) e1910915 - e1910915 .
Murphy AM, Smith CE, Murphy LM, Follis JL, Tanaka T, Richardson K, Noordam R, Lemaitre RN et al. ( 2019 ) . Potential Interplay between Dietary Saturated Fats and Genetic Variants of the NLRP3 Inflammasome to Modulate Insulin Resistance and Diabetes Risk: Insights from a Meta-Analysis of 19 005 Individuals . Molecular Nutrition and Food Research vol. 63 , ( 22 )
Hess JL, Tylee DS, Mattheisen M, Børglum AD, Als TD, Grove J, Werge T, Mortensen PB et al. ( 2019 ) . A polygenic resilience score moderates the genetic risk for schizophrenia . Molecular Psychiatry vol. 26 , ( 3 ) 800 - 815 .
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M et al. ( 2019 ) . Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing . Nature Genetics vol. 51 , ( 9 ) 1423 - 1424 .
Fabre M, McKerrell T, Zwiebel M, Vijayabaskar M, Rad R, Deloukas P, Small K, Steves CJ et al. ( 2019 ) . PF196 IDENTICAL TWINS DO NOT DISPLAY INCREASED CONCORDANCE FOR CLONAL HEMATOPOIESIS . HemaSphere vol. 3 , ( S1 )
Zeng L, Ntalla I, Kessler T, Kastrati A, Erdmann J, Group BCCCW, Danesh J, Watkins H et al. ( 2019 ) . Genetically modulated educational attainment and coronary disease risk . European Heart Journal vol. 40 , ( 29 ) 2413 - 2420 .
Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T et al. ( 2019 ) . Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity . Nature Genetics vol. 51 , ( 7 ) 1191 - 1192 .
Group MRODCW, Huang T, Sun D, Heianza Y, Bergholdt HK, Gao M, Fang Z, Ding M et al. ( 2019 ) . Dairy Intake and Body Composition and Cardiometabolic Traits among Adults: Mendelian Randomization Analysis of 182041 Individuals from 18 Studies . Clinical Chemistry vol. 65 , ( 6 ) 751 - 760 .
Ntalla I, Kanoni S, Zeng L, Giannakopoulou O, Danesh J, Watkins H, Samani NJ, Deloukas P et al. ( 2019 ) . Genetic Risk Score for Coronary Disease Identifies Predispositions to Cardiovascular and Noncardiovascular Diseases . Journal of the American College of Cardiology vol. 73 , ( 23 ) 2932 - 2942 .
Chen Z, Chen JA, Shatunov A, Jones AR, Kravitz SN, Huang AY, Lawrence L, Lowe JK et al. ( 2019 ) . Genome‐wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy . Movement Disorders vol. 34 , ( 7 ) 1049 - 1059 .
Marouli E, Del Greco MF, Astley CM, Yang J, Ahmad S, Berndt SI, Caulfield MJ, Evangelou E et al. ( 2019 ) . Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease . Communications Biology vol. 2 , ( 1 )
Marouli E, Del Greco MF, Astley CM, Yang J, Ahmad S, Berndt SI, Caulfield MJ, Evangelou E et al. ( 2019 ) . Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease . Commun Biol vol. 2 , ( 1 )
Patel RS, Schmidt AF, Tragante V, McCubrey RO, Holmes MV, Howe LJ, Direk K, Åkerblom A et al. ( 2019 ) . Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events . Circ Genom Precis Med vol. 12 , ( 4 ) e002471 - e002471 .
Patel RS, Tragante V, Schmidt AF, McCubrey RO, Holmes MV, Howe LJ, Direk K, Åkerblom A et al. ( 2019 ) . Subsequent Event Risk in Individuals With Established Coronary Heart Disease . Circ Genom Precis Med vol. 12 , ( 4 ) e002470 - e002470 .
Allum F, Hedman ÅK, Shao X, Cheung WA, Vijay J, Guénard F, Kwan T, Simon M-M et al. ( 2019 ) . Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome profiling in regulatory elements . Nature Communications vol. 10 , ( 1 )
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M et al. ( 2019 ) . Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing . Nature Genetics vol. 51 , ( 3 ) 414 - 430 .
Xie T, Gorenjak V, Stathopoulou MG, Dadé S, Marouli E, Masson C, Murray H, Lamont J et al. ( 2019 ) . Epigenome-Wide Association Study (EWAS) of Blood Lipids in Healthy Population from STANISLAS Family Study (SFS) . International Journal of Molecular Sciences vol. 20 , ( 5 )
Harold D, Connolly S, Riley BP, Kendler KS, McCarthy SE, McCombie WR, Richards A, Owen MJ et al. ( 2019 ) . Population‐based identity‐by‐descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia . American Journal of Medical Genetics Part B Neuropsychiatric Genetics vol. 180 , ( 3 ) 223 - 231 .
Justice AE, Karaderi T, Highland HM, Young KL, Graff M, Lu Y, Turcot V, Auer PL et al. ( 2019 ) . Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution . Nature Genetics vol. 51 , ( 3 ) 452 - 469 .
Danese E, Raimondi S, Montagnana M, Tagetti A, Langaee T, Borgiani P, Ciccacci C, Carcas AJ et al. ( 2019 ) . Effect of CYP4F2, VKORC1, and CYP2C9 in Influencing Coumarin Dose: A Single‐Patient Data Meta‐Analysis in More Than 15,000 Individuals . Clinical Pharmacology & Therapeutics vol. 105 , ( 6 ) 1477 - 1491 .
Vackova Z, Niebisch S, Triantafyllou T, Becker J, Hess T, Kreuser N, Kanoni S, Deloukas P et al. ( 2019 ) . First genotype‐phenotype study reveals HLA‐DQβ1 insertion heterogeneity in high‐resolution manometry achalasia subtypes . United European Gastroenterology Journal vol. 7 , ( 1 ) 45 - 51 .
Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Höhn R, Springelkamp H, Cuellar-Partida G, Gharahkhani P et al. ( 2019 ) . Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases . Nature Communications vol. 10 , ( 1 )
Erzurumluoglu AM, Liu M, Jackson VE, Barnes DR, Datta G, Melbourne CA, Young R, Batini C et al. ( 2019 ) . Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci . Molecular Psychiatry vol. 25 , ( 10 ) 2392 - 2409 .
Aragam KG, Jiang T, Kanoni S, Anuj G, Wolford B, Surakka I, Grace C, Thorleifsson G et al. ( 2019 ) . Genome-Wide Association Study of Over One Million Participants Identifies 49 Novel Loci Associated With Coronary Artery Disease . CIRCULATION . vol. 140 ,
Giannakopoulou O, Kanoni S, Giardoglou P, Kelaidoni K, Dedoussis G, Deloukas P ( 2019 ) . Genome-wide association analysis of recurrent myocardial infarction in UK Biobank identifies suggestive evidence for association to twenty seven loci . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 27 , 159 - 160 .
Visvikis-Siest S, Gorenjak V, Stathopoulou MG, Petrelis AM, Weryha G, Masson C, Hiegel B, Kumar S et al. ( 2018 ) . The 9th Santorini Conference: Systems Medicine, Personalised Health and Therapy. “The Odyssey from Hope to Practice”, Santorini, Greece, 30 September–3 October 2018 . Journal of Personalized Medicine vol. 8 , ( 4 )
Tsai P-C, Glastonbury CA, Eliot MN, Bollepalli S, Yet I, Castillo-Fernandez JE, Carnero-Montoro E, Hardiman T et al. ( 2018 ) . Smoking induces coordinated DNA methylation and gene expression changes in adipose tissue with consequences for metabolic health . Clinical Epigenetics vol. 10 , ( 1 )
Peña MSB, Swett K, Kaplan RC, Perreira K, Daviglus M, Kansal MM, Cai J, Giachello AL et al. ( 2018 ) . Childhood and adult exposure to secondhand tobacco smoke and cardiac structure and function: results from Echo-SOL . Open Heart vol. 5 , ( 2 )
Fernández-Rhodes L, Howard AG, Graff M, Isasi CR, Highland HM, Young KL, Parra E, Below JE et al. ( 2018 ) . Complex patterns of direct and indirect association between the transcription Factor-7 like 2 gene, body mass index and type 2 diabetes diagnosis in adulthood in the Hispanic Community Health Study/Study of Latinos . BMC Obesity vol. 5 , ( 1 )
Inouye M, Abraham G, Nelson CP, Wood AM, Sweeting MJ, Dudbridge F, Lai FY, Kaptoge S et al. ( 2018 ) . Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults Implications for Primary Prevention . Journal of the American College of Cardiology vol. 72 , ( 16 ) 1883 - 1893 .
Kimura T, Kobiyama K, Winkels H, Tse K, Miller J, Vassallo M, Wolf D, Ryden C et al. ( 2018 ) . Regulatory CD4+ T Cells Recognize Major Histocompatibility Complex Class II Molecule–Restricted Peptide Epitopes of Apolipoprotein B . Circulation vol. 138 , ( 11 ) 1130 - 1143 .
Chen JA, Chen Z, Won H, Huang AY, Lowe JK, Wojta K, Yokoyama JS, Bensimon G et al. ( 2018 ) . Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases . Molecular Neurodegeneration vol. 13 , ( 1 )
Wyss AB, Sofer T, Lee MK, Terzikhan N, Nguyen JN, Lahousse L, Latourelle JC, Smith AV et al. ( 2018 ) . Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function . Nature Communications vol. 9 , ( 1 )
Ndila CM, Uyoga S, Macharia AW, Nyutu G, Peshu N, Ojal J, Shebe M, Awuondo KO et al. ( 2018 ) . Human candidate gene polymorphisms and risk of severe malaria in children in Kilifi, Kenya: a case-control association study . The Lancet Haematology vol. 5 , ( 8 ) e333 - e345 .
Merino J, Dashti HS, Li SX, Sarnowski C, Justice AE, Graff M, Papoutsakis C, Smith CE et al. ( 2018 ) . Genome-wide meta-analysis of macronutrient intake of 91,114 European ancestry participants from the cohorts for heart and aging research in genomic epidemiology consortium . Molecular Psychiatry vol. 24 , ( 12 ) 1920 - 1932 .
Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Höhn R, Springelkamp H, Cuellar-Partida G, Gharahkhani P et al. ( 2018 ) . Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases . Nature Communications vol. 9 , ( 1 )
Smith AJP, Deloukas P, Munroe PB ( 2018 ) . Emerging applications of genome-editing technology to examine functionality of GWAS-associated variants for complex traits . Physiol Genomics
Mahajan A, Wessel J, Willems SM, Zhao W, Robertson NR, Chu AY, Gan W, Kitajima H et al. ( 2018 ) . Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes . Nature Genetics vol. 50 , ( 4 ) 559 - 571 .
Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R et al. ( 2018 ) . Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls . Scientific Data vol. 5 , ( 1 )
Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T et al. ( 2017 ) . Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity . Nature Genetics vol. 50 , ( 1 ) 26 - 41 .
Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T et al. ( 2017 ) . Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity . Nat Genet vol. 50 , ( 5 ) 765 - 766 .
Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R et al. ( 2017 ) . Sequence data and association statistics from 12,940 type 2 diabetes cases and controls . Sci Data vol. 4 , 170179 - 170179 .
Mozaffarian D, Dashti HS, Wojczynski MK, Chu AY, Nettleton JA, Männistö S, Kristiansson K, Reedik M et al. ( 2017 ) . Genome-wide association meta-analysis of fish and EPA+DHA consumption in 17 US and European cohorts . PLoS One vol. 12 , ( 12 ) e0186456 - e0186456 .
Gottlieb A, Daneshjou R, DeGorter M, Bourgeois S, Svensson PJ, Wadelius M, Deloukas P, Montgomery SB et al. ( 2017 ) . Cohort-specific imputation of gene expression improves prediction of warfarin dose for African Americans . Genome Medicine vol. 9 , ( 1 )
Robak LA, Jansen IE, van Rooij J, Uitterlinden AG, Kraaij R, Jankovic J, Consortium IPDG, Heutink P et al. ( 2017 ) . Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease . Brain vol. 140 , ( 12 ) 3191 - 3203 .
Marouli E, Kanoni S, Mamakou V, Hackinger S, Southam L, Prins B, Rentari A, Dimitriou M et al. ( 2017 ) . Evaluating the glucose raising effect of established loci via a genetic risk score . PLoS One vol. 12 , ( 11 ) Article 0186669 , e0186669 - e0186669 .
Márquez‐Luna C, Loh P, Consortium SAT2D, Consortium TST2D, Price AL ( 2017 ) . Multiethnic polygenic risk scores improve risk prediction in diverse populations . Genetic Epidemiology vol. 41 , ( 8 ) 811 - 823 .
Stathopoulou MG, Xie T, Ruggiero D, Chatelin J, Rancier M, Weryha G, Kurth MJ, Arguinano A-AA et al. ( 2017 ) . A transnational collaborative network dedicated to the study and applications of the vascular endothelial growth factor-A in medical practice: the VEGF Consortium . Clinical Chemistry and Laboratory Medicine vol. 56 , ( 4 ) 83 - 86 .
Liu DJ, Peloso GM, Yu H, Butterworth AS, Wang X, Mahajan A, Saleheen D, Emdin C et al. ( 2017 ) . Exome-wide association study of plasma lipids in >300,000 individuals . Nature Genetics vol. 49 , ( 12 ) 1758 - 1766 .
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Kahl C, Gesk S, Harder L, Harbott J, French L, Deloukas P, Grote W, Schlegelberger B et al. ( 2001 ) . Detection of translocations involving the HOX11/TCL3-locus in 10q24 by interphase fluorescence in situ hybridization . Cancer Genet Cytogenet vol. 129 , ( 1 ) 80 - 84 .
Heckbert SR, Kaplan RC, Weiss NS, Psaty BM, Lin D, Furberg CD, Starr JR, Anderson GD et al. ( 2001 ) . Risk of Recurrent Coronary Events in Relation to Use and Recent Initiation of Postmenopausal Hormone Therapy . JAMA Internal Medicine vol. 161 , ( 14 ) 1709 - 1713 .
Thomas R, Breen M, Deloukas P, Holmes NG, Binns MM ( 2001 ) . An integrated cytogenetic, radiation-hybrid, and comparative map of dog chromosome 5 . Mamm Genome vol. 12 , ( 5 ) 371 - 375 .
Yu A, Zhao C, Fan Y, Jang W, Mungall AJ, Deloukas P, Olsen A, Doggett NA et al. ( 2001 ) . Comparison of human genetic and sequence-based physical maps . Nature vol. 409 , ( 6822 ) 951 - 953 .
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K et al. ( 2001 ) . Initial sequencing and analysis of the human genome . NATURE vol. 409 , ( 6822 ) 860 - 921 .
Bentley DR, Deloukas P, Dunham A, French L, Gregory SG, Humphray SJ, Mungall AJ, Ross MT et al. ( 2001 ) . The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X . Nature vol. 409 , ( 6822 ) 942 - 943 .
Klungel OH, Heckbert SR, Longstreth WT, Furberg CD, Kaplan RC, Smith NL, Lemaitre RN, Leufkens HG et al. ( 2001 ) . Antihypertensive Drug Therapies and the Risk of Ischemic Stroke . JAMA Internal Medicine vol. 161 , ( 1 ) 37 - 43 .
Cardon LR, Abecasis G, Dawson E, Bumpstead S, Chen Y, Hunt S, Pabiol J, Dibling T et al. ( 2001 ) . A linkage disequilibrium map of chromosome 22 . AMERICAN JOURNAL OF HUMAN GENETICS . vol. 69 , 197 - 197 .
Deloukas P ( 2001 ) . Construction of transcript maps by somatic cell/radiation hybrid mapping. The human gene map . Methods Mol Biol vol. 175 , 155 - 168 .
Deloukas P ( 2001 ) . Map integration. From a genetic map to a physical gene map and ultimately to the sequence map . Methods Mol Biol vol. 175 , 129 - 142 .
Deloukas P ( 2001 ) . The sequence of human chromosome 20 and its comparative analysis . AMERICAN JOURNAL OF HUMAN GENETICS . vol. 69 , 219 - 219 .
Dublin S, Lydon-Rochelle M, Kaplan RC, Watts DH, Critchlow CW ( 2000 ) . Maternal and neonatal outcomes after induction of labor without an identified indication . American Journal of Obstetrics and Gynecology . vol. 183 , 986 - 994 .
Bench AJ, Nacheva EP, Hood TL, Holden JL, French L, Swanton S, Champion KM, Li J et al. ( 2000 ) . Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes. UK Cancer Cytogenetics Group (UKCCG) . Oncogene vol. 19 , ( 34 ) 3902 - 3913 .
Kaplan RC, Heckbert SR, Koepsell TD, Rosendaal FR, Psaty BM ( 2000 ) . Use of Calcium Channel Blockers and Risk of Hospitalized Gastrointestinal Tract Bleeding . JAMA Internal Medicine vol. 160 , ( 12 ) 1849 - 1855 .
Klungel OH, Kaplan RC, Heckbert SR, Smith NL, Lemaitre RN, Longstreth WT, Leufkens HGM, de Boer A et al. ( 2000 ) . Control of Blood Pressure and Risk of Stroke Among Pharmacologically Treated Hypertensive Patients . Stroke vol. 31 , ( 2 ) 420 - 424 .
Deloukas P ( 2000 ) . Completing the sequence of human chromosome 20 . AMERICAN JOURNAL OF HUMAN GENETICS . vol. 67 , 22 - 22 .
Ebenezer ND, Stavrides G, Tharmarajah S, El-Ashry M, Ficker LA, Deloukas P, Bhattacharya SS ( 2000 ) . Positional cloning of the gene for CHED 1: A YAC/PAC and transcript map spanning the locus on 20p11.2 . INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE . vol. 41 , S539 - S539 .
Deloukas P, French L, Meitinger T, Moschonas NK ( 2000 ) . Report of the third international workshop on human chromosome 10 mapping and sequencing 1999 . Cytogenet Cell Genet vol. 90 , ( 1-2 ) 1 - 12 .
Kaplan RC, Psaty BM ( 1999 ) . ACE-inhibitor therapy and nosocomial pneumonia* . American Journal of Hypertension vol. 12 , ( 11 ) 1161 - 1162 .
Kaplan RC, Psaty BM, Heckbert SR, Smith NL, Lemaitre RN ( 1999 ) . Blood pressure level and incidence of myocardial infarction among patients treated for hypertension . American Journal of Public Health vol. 89 , ( 9 ) 1414 - 1417 .
Malas S, Duthie S, Deloukas P, Episkopou V ( 1999 ) . The isolation and high-resolution chromosomal mapping of human SOX14 and SOX21; two members of the SOX gene family related to SOX1, SOX2, and SOX3 . Mamm Genome vol. 10 , ( 9 ) 934 - 937 .
Psaty BM, Weiss NS, Furberg CD, Koepsell TD, Siscovick DS, Rosendaal FR, Smith NL, Heckbert SR et al. ( 1999 ) . Surrogate End Points, Health Outcomes, and the Drug-Approval Process for the Treatment of Risk Factors for Cardiovascular Disease . JAMA vol. 282 , ( 8 ) 786 - 790 .
Mehus JG, Deloukas P, Lambeth DO ( 1999 ) . NME6: a new member of the nm23/nucleoside diphosphate kinase gene family located on human chromosome 3p21.3 . Hum Genet vol. 104 , ( 6 ) 454 - 459 .
Van Tine BA, Knops JF, Butler A, Deloukas P, Shaw GM, King PH ( 1998 ) . Localization of HuC (ELAVL3) to chromosome 19p13.2 by fluorescence in situ hybridization utilizing a novel tyramide labeling technique . Genomics vol. 53 , ( 3 ) 296 - 299 .
Deloukas P, Schuler GD, Gyapay G, Beasley EM, Soderlund C, Rodriguez-Tomé P, Hui L, Matise TC et al. ( 1998 ) . A physical map of 30,000 human genes . Science vol. 282 , ( 5389 ) 744 - 746 .
Bentley DR, Pruitt KD, Deloukas P, Schuler GD, Ostell J ( 1998 ) . Coordination of human genome sequencing via a consensus framework map . Trends Genet vol. 14 , ( 10 ) 381 - 384 .
Kaplan RC, Heckbert SR, Weiss NS, Wahl PW, Smith NL, Newton KM, Psaty BM ( 1998 ) . Postmenopausal Estrogens and Risk of Myocardial Infarction in Diabetic Women . Diabetes Care vol. 21 , ( 7 ) 1117 - 1121 .
Bench AJ, Aldred MA, Humphray SJ, Champion KM, Gilbert JG, Asimakopoulos FA, Deloukas P, Gwilliam R et al. ( 1998 ) . A detailed physical and transcriptional map of the region of chromosome 20 that is deleted in myeloproliferative disorders and refinement of the common deleted region . Genomics vol. 49 , ( 3 ) 351 - 362 .
Kaplan RC, Psaty BM, Kriesel D, Heckbert SR, Smith NL, Gillett C, Golston AG ( 1998 ) . Replacing Short-Acting Nifedipine With Alternative Medications at a Large Health Maintenance Organization . American Journal of Hypertension vol. 11 , ( 4 ) 471 - 477 .
Bench AJ, Aldred MA, Holloway TL, Champion KM, Gilbert JGR, Humphray SJ, Gwilliam R, Deloukas P et al. ( 1998 ) . Transcript mapping of the region of chromosome 20q that is deleted in myeloproliferative disorders . BRITISH JOURNAL OF HAEMATOLOGY . vol. 102 , 156 - 156 .
Soderlund C, Lau T, Deloukas P ( 1998 ) . Z extensions to the RHMAPPER package . Bioinformatics vol. 14 , ( 6 ) 538 - 539 .
Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE, Rodriguez-Tomé P et al. ( 1996 ) . A gene map of the human genome . Science vol. 274 , ( 5287 ) 540 - 546 .
Schuler GD, Boguski MS, Hudson TJ, Hui L, Ma J, Castle AB, Wu X, Silva J et al. ( 1996 ) . Genome maps 7. The human transcript map. Wall chart . Science vol. 274 , ( 5287 ) 547 - 562 .
Mungall AJ, Edwards CA, Ranby SA, Humphray SJ, Heathcott RW, Clee CM, East CL, Holloway E et al. ( 1996 ) . Physical mapping of chromosome 6: a strategy for the rapid generation of sequence-ready contigs . DNA Seq vol. 7 , ( 1 ) 47 - 49 .
Héron E, Deloukas P, van Loon AP ( 1995 ) . The complete exon-intron structure of the 156-kb human gene NFKB1, which encodes the p105 and p50 proteins of transcription factors NF-kappa B and I kappa B-gamma: implications for NF-kappa B-mediated signal transduction . Genomics vol. 30 , ( 3 ) 493 - 505 .
Deloukas P, Dauwerse JG, van Ommen GJ, van Loon AP ( 1994 ) . The human NFKB3 gene encoding the p65 subunit of transcription factor NF-kappa B is located on chromosome 11q12 . Genomics vol. 19 , ( 3 ) 592 - 594 .
Moschonas NK, Goulielmos G, Lubyova B, Manifava M, Deloukas P, Loon AP, Kapsetaki M ( 1993 ) . Dinucleotide repeat polymorphism (D10S608) adjacent to the GLUD1 locus . Hum Mol Genet vol. 2 , ( 11 )
Deloukas P, van Loon AP ( 1993 ) . Genomic organization of the gene encoding the p65 subunit of NF-kappa B: multiple variants of the p65 protein may be generated by alternative splicing . Hum Mol Genet vol. 2 , ( 11 ) 1895 - 1900 .
Deloukas P, Dauwerse JG, Moschonas NK, van Ommen GJ, van Loon AP ( 1993 ) . Three human glutamate dehydrogenase genes (GLUD1, GLUDP2, and GLUDP3) are located on chromosome 10q, but are not closely physically linked . Genomics vol. 17 , ( 3 ) 676 - 681 .
Deloukas P, Aigner L, Kania M, van Loon AP ( 1992 ) . Construction of yeast artificial chromosome (YAC) clone banks covering three genome equivalents and isolation of YACs containing the human gene encoding tumor necrosis factor receptor beta . Gene vol. 110 , ( 2 ) 189 - 195 .